propionic acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 57 studies
propionic acid : A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant." | 7.70 | Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. ( Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J, 1998) |
| "This study investigated the hematologic abnormalities of an infant with propionic acidemia and reversible pancytopenia." | 7.67 | Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. ( Ambruso, DR; McCabe, ER; Moscinski, LC; Sambrano, JE; Stork, LC; Wallner, SF; Wilson, HL, 1986) |
| " Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (n=2), ornithine carbamoyltransferase deficiency (n=1), propionic acidaemia (n=1), isovaleric acidaemia (n=1), maple syrup urine disease (n=1) and glutaric acidemia type I (n=1) were tried with breastfeeding over two years." | 3.73 | Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. ( Baykal, T; Demir, F; Demirkol, M; Huner, G, 2005) |
| "Males with propionic acidemia have moderate to severe bilateral optic atrophy." | 3.72 | Optic nerve atrophy in propionic acidemia. ( Ianchulev, T; Kolin, T; Moseley, K; Sadun, A, 2003) |
| "We report a 5-year-old boy with propionic acidaemia who developed a rapidly fatal necrosis of the basal ganglia after an episode of clinical deterioration." | 3.70 | An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis. ( Cabrera, JC; Gangoiti, J; García, MJ; Hoenicka, J; Martí, M; Merinero, B; Muro, S; Peña, L; Pérez-Cerdá, C; Richard, E; Rodríguez-Pombo, P; Sanz, P; Ugarte, M, 1998) |
| "Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant." | 3.70 | Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. ( Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J, 1998) |
| " We report here on a case of anemia associated with erythroblastopenia-that is less frequent in this context-in a neonate with methylmalonic aciduria." | 3.69 | Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies. ( Blum, D; Clercx, A; Corazza, F; Fondu, P; Mardens, Y, 1996) |
| "Reexamination of serum from a child thought to have died of ethylene glycol poisoning showed that the child had methylmalonic acidemia." | 3.68 | Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. ( Hoffmann, JW; Lynch, RE; Shoemaker, JD; Sly, WS, 1992) |
| "An infant newly diagnosed with propionic acidemic coma was managed successfully with total parenteral nutrition (TPN) and continuous infusion of insulin." | 3.68 | A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition. ( Gleispach, H; Kalloghlian, A; Ozand, PT, 1992) |
| "Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16 patients with neonatal maple syrup urine disease (MSUD), 11 methylmalonic acidaemia, (MMA) seven propionic acidaemias (PA) and seven isovaleric acidaemias (IVA), and by comparing this personal series with similar reported cases." | 3.67 | Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. ( Charpentier, C; Coudé, FX; Depondt, E; Frézal, J; Mitchell, G; Munnich, A; Ogier, H; Rey, F; Rey, J; Saudubray, JM, 1984) |
| "This study investigated the hematologic abnormalities of an infant with propionic acidemia and reversible pancytopenia." | 3.67 | Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. ( Ambruso, DR; McCabe, ER; Moscinski, LC; Sambrano, JE; Stork, LC; Wallner, SF; Wilson, HL, 1986) |
| "Untreated, propionic acidemia leads to metabolic decompensation and toxic encephalopathy." | 2.69 | Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. ( Aichner, F; Chemelli, AP; Felber, S; Schocke, M; Sperl, W; Trieb, T, 2000) |
| "No methylmalonic acidemia has been reported in children with CDKL5 disorder." | 1.48 | A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. ( Akamine, S; Fukai, R; Hara, T; Ishizaki, Y; Kimura, M; Koga, H; Matsumoto, N; Miyake, N; Ohga, S; Ohkubo, K; Saitsu, H; Sakai, Y; Sakamoto, O; Sakata, A; Sanefuji, M; Torisu, H; Yamaguchi, S, 2018) |
| " Oxidative stress and excitotoxicity have been involved in the toxic pattern exerted by these organic acids." | 1.42 | The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes. ( Colín-González, AL; Leipnitz, G; Paz-Loyola, AL; Ribeiro, CA; Santamaría, A; Seminotti, B; Serratos, IN; Souza, DO; Wajner, M, 2015) |
| "Propionic acidemia is an autosomal recessive disorder as a result of a deficient activity of propionyl-CoA carboxylase." | 1.35 | [Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry]. ( Arteaga, C; Bermúdez, M; Cifuentes, Y; De la Hoz, I, 2008) |
| "Propionic acidemia is an inborn error of metabolism resulting from a deficiency of propionyl-CoA carboxylase activity." | 1.28 | Two distinct mutations at the same site in the PCCB gene in propionic acidemia. ( Gravel, RA; Lamhonwah, AM; Schuster, S; Troxel, CE, 1990) |
| "Propionylcarnitine excretion was measured and about 55% of the overall excretion during the 48 h treatment period was attributed to an effect of carnitine administration." | 1.27 | The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia. ( Böhles, H; Lehnert, W, 1984) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 13 (22.81) | 18.7374 |
| 1990's | 17 (29.82) | 18.2507 |
| 2000's | 24 (42.11) | 29.6817 |
| 2010's | 3 (5.26) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Akamine, S | 1 |
| Ishizaki, Y | 1 |
| Sakai, Y | 1 |
| Torisu, H | 1 |
| Fukai, R | 1 |
| Miyake, N | 1 |
| Ohkubo, K | 1 |
| Koga, H | 1 |
| Sanefuji, M | 1 |
| Sakata, A | 1 |
| Kimura, M | 1 |
| Yamaguchi, S | 1 |
| Sakamoto, O | 1 |
| Hara, T | 1 |
| Saitsu, H | 1 |
| Matsumoto, N | 1 |
| Ohga, S | 1 |
| Colín-González, AL | 2 |
| Paz-Loyola, AL | 2 |
| Serratos, I | 1 |
| Seminotti, B | 2 |
| Ribeiro, CA | 2 |
| Leipnitz, G | 2 |
| Souza, DO | 2 |
| Wajner, M | 2 |
| Santamaría, A | 2 |
| Serratos, IN | 1 |
| Lindner, M | 1 |
| Ho, S | 1 |
| Kölker, S | 3 |
| Abdoh, G | 1 |
| Hoffmann, GF | 2 |
| Burgard, P | 1 |
| Cifuentes, Y | 1 |
| De la Hoz, I | 1 |
| Bermúdez, M | 1 |
| Arteaga, C | 1 |
| Williams, ZR | 1 |
| Hurley, PE | 1 |
| Altiparmak, UE | 1 |
| Feldon, SE | 1 |
| Arnold, GL | 1 |
| Eggenberger, E | 1 |
| Mejico, LJ | 1 |
| Sauer, SW | 2 |
| Opp, S | 1 |
| Haarmann, A | 1 |
| Okun, JG | 2 |
| Morath, MA | 1 |
| Yorifuji, T | 2 |
| Kawai, M | 2 |
| Muroi, J | 1 |
| Mamada, M | 2 |
| Kurokawa, K | 2 |
| Shigematsu, Y | 2 |
| Hirano, S | 1 |
| Sakura, N | 1 |
| Yoshida, I | 2 |
| Kuhara, T | 2 |
| Endo, F | 1 |
| Mitsubuchi, H | 1 |
| Nakahata, T | 2 |
| Al-Hassnan, ZN | 1 |
| Boyadjiev, SA | 1 |
| Praphanphoj, V | 1 |
| Hamosh, A | 1 |
| Braverman, NE | 1 |
| Thomas, GH | 1 |
| Geraghty, MT | 1 |
| Ianchulev, T | 1 |
| Kolin, T | 1 |
| Moseley, K | 1 |
| Sadun, A | 1 |
| Leonard, JV | 2 |
| Vijayaraghavan, S | 1 |
| Walter, JH | 2 |
| Egawa, H | 1 |
| Kohno, Y | 1 |
| Tanaka, K | 1 |
| Clavero, S | 1 |
| Pérez, B | 2 |
| Rincón, A | 1 |
| Ugarte, M | 5 |
| Desviat, LR | 2 |
| Kumps, A | 1 |
| Vamos, E | 1 |
| Mardens, Y | 2 |
| Abramowicz, M | 1 |
| Genin, J | 1 |
| Duez, P | 1 |
| Huner, G | 1 |
| Baykal, T | 1 |
| Demir, F | 1 |
| Demirkol, M | 1 |
| Schwab, MA | 1 |
| Nijtmans, LG | 1 |
| Rodenburg, RJ | 1 |
| van den Heuvel, LP | 1 |
| Dröse, S | 1 |
| Brandt, U | 1 |
| Ter Laak, H | 1 |
| Smeitink, JA | 2 |
| Karagoz, AH | 1 |
| Uzümcügil, F | 1 |
| Celebi, N | 1 |
| Canbay, O | 1 |
| Ozgen, S | 1 |
| Wikoff, WR | 1 |
| Gangoiti, JA | 1 |
| Barshop, BA | 2 |
| Siuzdak, G | 1 |
| Bennett, MJ | 1 |
| Van Gosen, L | 1 |
| Saudubray, JM | 4 |
| Ogier, H | 1 |
| Charpentier, C | 1 |
| Depondt, E | 1 |
| Coudé, FX | 1 |
| Munnich, A | 1 |
| Mitchell, G | 1 |
| Rey, F | 1 |
| Rey, J | 1 |
| Frézal, J | 1 |
| Böhles, H | 1 |
| Lehnert, W | 1 |
| Merinero, B | 3 |
| DelValle, JA | 1 |
| Jiménez, A | 1 |
| Garcia, MJ | 3 |
| Solaguren, R | 1 |
| López, O | 1 |
| Condado, I | 1 |
| Shinka, T | 1 |
| Matsumoto, I | 1 |
| Matsuo, M | 1 |
| Steinman, L | 1 |
| Clancy, RR | 1 |
| Cann, H | 1 |
| Urich, H | 1 |
| Asconapé, J | 1 |
| Challa, VR | 1 |
| Angelo, JN | 1 |
| Oizumi, J | 2 |
| Giudici, TA | 2 |
| Ng, WG | 2 |
| Shaw, KN | 2 |
| Donnell, GN | 2 |
| Little, JA | 1 |
| Dempsey, NJ | 1 |
| Tuchman, M | 2 |
| Ginder, GD | 1 |
| Loyer, M | 1 |
| Leclerc, D | 1 |
| Gravel, RA | 2 |
| Bodemer, C | 1 |
| De Prost, Y | 1 |
| Bachollet, B | 1 |
| Poggi, F | 1 |
| Teillac-Hamel, D | 1 |
| Fraitag, S | 1 |
| Bergman, AJ | 1 |
| Van der Knaap, MS | 1 |
| Duran, M | 1 |
| Dorland, L | 1 |
| Valk, J | 1 |
| Poll-The, BT | 1 |
| Corazza, F | 1 |
| Blum, D | 1 |
| Clercx, A | 1 |
| Fondu, P | 1 |
| Pérez-Cerdá, C | 3 |
| Martí, M | 1 |
| Cabrera, JC | 1 |
| Peña, L | 1 |
| Gangoiti, J | 1 |
| Sanz, P | 1 |
| Rodríguez-Pombo, P | 2 |
| Hoenicka, J | 1 |
| Richard, E | 1 |
| Muro, S | 2 |
| Chadefaux-Vekemans, B | 1 |
| Kamoun, P | 1 |
| Tonetti, C | 1 |
| Zittoun, J | 1 |
| Jakobs, C | 1 |
| Ravn, K | 1 |
| Chloupkova, M | 1 |
| Christensen, E | 1 |
| Brandt, NJ | 1 |
| Simonsen, H | 1 |
| Kraus, JP | 1 |
| Nielsen, IM | 1 |
| Skovby, F | 1 |
| Schwartz, M | 1 |
| Chemelli, AP | 1 |
| Schocke, M | 1 |
| Sperl, W | 1 |
| Trieb, T | 1 |
| Aichner, F | 1 |
| Felber, S | 1 |
| Yu, X | 1 |
| Thompson, MM | 1 |
| Shi, D | 1 |
| Chace, DH | 1 |
| DiPerna, JC | 1 |
| Kalas, TA | 1 |
| Johnson, RW | 1 |
| Naylor, EW | 1 |
| Ashwal, S | 1 |
| Cranford, R | 1 |
| Filiano, JJ | 1 |
| Bellimer, SG | 1 |
| Kunz, PL | 1 |
| Wilkemeyer, M | 1 |
| Stankovics, J | 1 |
| Foy, T | 1 |
| Ledley, FD | 1 |
| Shoemaker, JD | 1 |
| Lynch, RE | 1 |
| Hoffmann, JW | 1 |
| Sly, WS | 1 |
| Kalloghlian, A | 1 |
| Gleispach, H | 1 |
| Ozand, PT | 1 |
| Davies, SE | 1 |
| Iles, RA | 1 |
| Stacey, TE | 1 |
| de Sousa, C | 1 |
| Chalmers, RA | 2 |
| Ajami, A | 1 |
| Sweetman, L | 1 |
| Wolff, JA | 1 |
| Sweetman, FR | 1 |
| Prodanos, C | 1 |
| Smith, M | 1 |
| Nyhan, WL | 2 |
| Rolland, MO | 1 |
| Divry, P | 1 |
| Mandon, G | 1 |
| Guibaud, P | 1 |
| Mathieu, M | 1 |
| Sournies, G | 1 |
| Thoulon, JM | 1 |
| Thompson, GN | 2 |
| Bresson, JL | 1 |
| Bonnefont, JP | 1 |
| Read, MA | 1 |
| Halliday, D | 1 |
| Lamhonwah, AM | 1 |
| Troxel, CE | 1 |
| Schuster, S | 1 |
| Poulos, A | 1 |
| Johnson, D | 1 |
| Singh, H | 1 |
| Hyman, SL | 1 |
| Porter, CA | 1 |
| Page, TJ | 1 |
| Iwata, BA | 1 |
| Kissel, R | 1 |
| Batshaw, ML | 1 |
| Chen, RG | 1 |
| Wendel, U | 1 |
| Diekmann, E | 1 |
| Laryea, MD | 1 |
| Stork, LC | 1 |
| Ambruso, DR | 1 |
| Wallner, SF | 1 |
| Sambrano, JE | 1 |
| Moscinski, LC | 1 |
| Wilson, HL | 1 |
| McCabe, ER | 1 |
| Laing, SC | 1 |
| Kelts, DG | 1 |
| Ney, D | 1 |
| Bay, C | 1 |
2 reviews available for propionic acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Organic acidemias: a methylmalonic and propionic focus.
Topics: Acidosis; Aftercare; Amino Acid Metabolism, Inborn Errors; Diet, Protein-Restricted; Early Diagnosis | 2008 |
Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Basal Ganglia; Carboxy-Lyases; Case-Control Stud | 1996 |
1 trial available for propionic acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Atrophy; Brain; Central Nervous System Diseases; Female; Follo | 2000 |
54 other studies available for propionic acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Male; Methionine; Methylma | 2018 |
Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic; Disease Models, Ani | 2015 |
The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes.
Topics: Acids, Acyclic; Amino Acid Metabolism, Inborn Errors; Animals; Benzoxazines; Brain; Brain Diseases, | 2015 |
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screenin | 2008 |
[Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry].
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Consanguinity; Fatal Outcome; Female; Humans; Infan | 2008 |
Late onset optic neuropathy in methylmalonic and propionic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dietary Supplements; Female; Humans; Male; Methylm | 2009 |
Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cells, Cultured; Electron Transport; Glutathione; Hum | 2009 |
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Carnitine; Child, Preschool | 2002 |
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.
Topics: Acid-Base Equilibrium; Amino Acid Metabolism, Inborn Errors; Bicarbonates; Biomarkers; Diet, Protein | 2003 |
Optic nerve atrophy in propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Child; Child, Preschool; Female; Humans; Male; | 2003 |
The impact of screening for propionic and methylmalonic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Humans; Infant, Newborn; Mass Spectrometry; | 2003 |
Living-donor liver transplantation for propionic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child Development; Child, Preschool; Female; Humans; In | 2004 |
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.
Topics: Amino Acid Metabolism, Inborn Errors; Chromones; DNA Mutational Analysis; Fibroblasts; Humans; Pheno | 2004 |
Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Chromatography; Electrons; Fema | 2004 |
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Breast Feeding; Child, Preschool; Follow-Up Studies; Glutarate | 2005 |
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.
Topics: Acetyl Coenzyme A; Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Animals; Cattle; Energy Me | 2006 |
Anesthetic management of a 2-year-old male with propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Anesthesia; Apnea; Bronchial Spasm; Child, Preschool; Humans; | 2006 |
Metabolomics identifies perturbations in human disorders of propionate metabolism.
Topics: Acetylcarnitine; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Biomarkers; Carnitine; Child; | 2007 |
Untargeted metabolomic analysis hits the target.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Humans; Methylmalonic Ac | 2007 |
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
Topics: Acids; Amino Acid Metabolism, Inborn Errors; Diuresis; Exchange Transfusion, Whole Blood; Hemiterpen | 1984 |
The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Humans; Infant; Injections, Intravenous; Pr | 1984 |
Late onset type of propionic acidaemia: case report and biochemical studies.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon-Carbon Ligases; Female; Glycine; Humans; Hydr | 1981 |
Increased excretion of four acetyl-CoA precursors during clinical episode of propionic acidaemia.
Topics: Acetyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Leucine; Propionate | 1982 |
The neuropathology of propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Female; Humans; Infant; Infa | 1983 |
Spongy degeneration of the nervous system associated with propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Central Nervous System Diseases; Cerebellum; Humans; Infant; M | 1981 |
Propionate metabolism by cultured skin fibroblasts from normal individuals and patients with methylmalonicaciduria and propionicacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fatty Acids, Nonesterified; Fibroblasts; Huma | 1981 |
Metabolic persistence of fetal hemoglobin.
Topics: Acyl-CoA Dehydrogenase; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Base Sequence; Carboxy | 1995 |
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Cell Line; DNA, Complementary; Fibroblasts; Ge | 1995 |
Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Dermatitis; Edema; Erythema; Humans; Infant; | 1994 |
Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia; Blood; Cells, Cultured; Erythroblasts; Erythroid Precu | 1996 |
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Topics: Amino Acid Metabolism, Inborn Errors; Basal Ganglia; Basal Ganglia Diseases; Carboxy-Lyases; Child, | 1998 |
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Cells, Cultured; Chorion; Chori | 1998 |
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Cells, Cultured; Enzyme Stability; Et | 2000 |
Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Awards and Prizes; Car | 2000 |
Quantification of benzoic, phenylacetic, and phenylbutyric acids from filter-paper blood spots by gas chromatography--mass spectrometry with stable isotope dilution.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoic Acid; Blood Specimen Collection; Deuterium; Gas Chroma | 2001 |
Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Carnitine; False Positive Reactions | 2001 |
The minimally conscious state in children.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Awareness; Brain; Brain Damage, Chronic; Brain Inj | 2002 |
Tandem mass spectrometry and newborn screening: pilot data and review.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Health Care Costs; Humans; Incidence; Infant | 2002 |
Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: implications for somatic gene therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Carcinoma, Hepatocellular; Cells, Cultured; Fibroblasts; Genet | 1992 |
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Diagnostic Errors; Ethylene Gly | 1992 |
A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Coma; Combined Modality Therapy; Fe | 1992 |
Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy.
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Female; Gas Chro | 1991 |
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon Dioxide; Carboxy-Lyases; Carnitine; | 1991 |
Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carboxy-Lyases; Cells, Cultured; Chorionic Vil | 1990 |
A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Breath Tests; Carbon Dioxide; Carbon Isotopes; Carboxy | 1990 |
Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Carboxy-Lyases; D | 1990 |
Defective oxidation of pristanic acid by fibroblasts from patients with disorders in propionic acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Fatty Acids; Fibroblasts; Humans; Mutation; Oxidati | 1990 |
Increased urinary metabolite excretion during fasting in disorders of propionate metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrates; Fasting; Fatty Acids | 1990 |
Behavior management of feeding disturbances in urea cycle and organic acid disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anorexia; Argininosuccinic Acid; Behavior Therapy; Chil | 1987 |
Methylmalonic and propionic acidemias: lipid profiles of normal and affected human skin fibroblasts incubated with [1-14C]propionate.
Topics: Amino Acid Metabolism, Inborn Errors; Autoradiography; Carbon Radioisotopes; Carboxy-Lyases; Cell Li | 1986 |
Odd-numbered long-chain fatty acid contents in erythrocyte membrane phospholipids in patients with an impaired propionate utilization.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Erythrocyte Membrane; Fatty Acids; Humans; | 1988 |
Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro.
Topics: Amino Acid Metabolism, Inborn Errors; Bone Marrow; Colony-Forming Units Assay; Female; Hematopoiesis | 1986 |
The dietary challenge of propionicacidaemia in an Asian girl.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Child, Preschool; Dietary Proteins; Enteral Nu | 1985 |
Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Dietary Proteins; Energy Intake; Female; | 1985 |